GBA (NM_000157) Human Mass Spec Standard

CAT#: PH316061

GBA MS Standard C13 and N15-labeled recombinant protein (NP_000148)



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CNY 19,520.00


货期*
4周

规格
    • 10 ug

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Specifications

Product Data
Description GBA MS Standard C13 and N15-labeled recombinant protein (NP_000148)
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC216061
Predicted MW 59.72 kDa
Protein Sequence
Tag C-Myc/DDK
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq NP_000148
RefSeq Size 2324
RefSeq ORF 1608
Synonyms GBA1; GCB; GLUC
Locus ID 2629
Cytogenetics 1q22
Summary This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Protein Families Druggable Genome
Protein Pathways Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism
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